Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology最新文献

{"title":"Novel compound heterozygous MRTFA gene variants cause multiple dysfunctions of neutrophils and autoinflammation.","authors":"Wendao Li, Lu Yang, Lang Yu, Rui Gan, Ge Lv, Wenjing Tang, Lina Zhou, Yunfei An, Zhiyong Zhang, Xuemei Tang, Yanan Li, Xiaodong Zhao","doi":"10.1111/pai.70171","DOIUrl":"10.1111/pai.70171","url":null,"abstract":"<p><strong>Background: </strong>Compound heterozygous mutations in the MRTFA gene have not been reported; the complete clinical phenotypic spectrum associated with MRTFA deficiency remains undefined. Whether such mutations can result in autoinflammatory manifestations is also yet to be determined.</p><p><strong>Methods: </strong>Comprehensive analyses were conducted on a patient with novel compound heterozygous MRTFA variants, encompassing clinical data collection, genetic validation, and functional studies. Functional assays included protein stability assessment, SRF transcriptional activity measurement, and neutrophil functional evaluation. Lymphocyte profiling was performed using flow cytometry. Transcriptomic alterations in neutrophils and PBMCs were examined through bulk RNA-sequencing.</p><p><strong>Results: </strong>The patient presented with early-onset infections, rashes, and bloody stools, accompanied by neutropenia and thrombocytopenia. Whole-exome sequencing identified two novel heterozygous nonsense mutations in MRTFA (Q377X/C684X), which caused the absence of MKL1 protein expression and reduced cytoskeletal protein levels. Both mutants presented protein instability and impaired SRF transcriptional activation. F-actin content was reduced in various cell types from the patient. Neutrophils from the patient showed impaired F-actin polymerization, decreased migration ability, reduced ROS production, increased apoptosis, diminished NETs formation, and decreased MPO levels. Transcriptome profiling revealed neutrophil-specific downregulation of cytoskeletal genes with concomitant upregulation of antimicrobial peptide/inflammatory pathways, while PBMCs presented upregulated adhesion/migration-related genes.</p><p><strong>Conclusion: </strong>This study identifies the first reported case with compound heterozygous mutations in the MRTFA gene. The patient demonstrated a milder infectious phenotype but with marked neutrophil dysfunction and prominent autoinflammatory features. This study expands the disease spectrum of MKL1 deficiency and highlights the broader impacts of MKL1 deficiency on neutrophil function and immune regulation.</p>","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 8","pages":"e70171"},"PeriodicalIF":4.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144850355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cross-tolerance in fish Food Protein-Induced Enterocolitis Syndrome: Bony fish-allergic children tolerate cartilaginous fish, and vice versa.","authors":"Stefano Miceli Sopo, Angela Aurelio, Francesco Mastellone, Tecla Fontana, Giulia Bersani","doi":"10.1111/pai.70179","DOIUrl":"https://doi.org/10.1111/pai.70179","url":null,"abstract":"","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 8","pages":"e70179"},"PeriodicalIF":4.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144986908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to \"Anaphylaxis to a Blood Feeding Leech\".","authors":"","doi":"10.1111/pai.70161","DOIUrl":"10.1111/pai.70161","url":null,"abstract":"","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 8","pages":"e70161"},"PeriodicalIF":4.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144802413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An overview on current practices regarding the diagnosis and management of chronic urticaria in pediatrics: An EAACI Task Force report.","authors":"Stefania Arasi, Helena Pite, Burcin Beken, Montserrat Alvaro-Lozano, Helen Brough, Carlo Caffarelli, Martin K Church, Carlo Carsten Flohr, Sherief R Janmohamed, George N Konstantinou, Susanne Lau, Marcus Maurer, Charlotte G Mortz, Krzysztof Rutkowski, Petra Staubach-Renz, Lauri-Ann Van der Poel, Torsten Zuberbier, Karsten Weller, Sophia Tsabouri","doi":"10.1111/pai.70174","DOIUrl":"https://doi.org/10.1111/pai.70174","url":null,"abstract":"<p><strong>Background: </strong>The EAACI Task Force entitled \"Improving Chronic Urticaria (CU) Management in Pediatrics\" aimed to explore the differences in the diagnostic and management practices for CU in children (0-18 years).</p><p><strong>Methods: </strong>An online clinical survey including 41 multiple choice questions on current practices for the management of childhood CU was disseminated among EAACI members.</p><p><strong>Results: </strong>The survey was circulated to 50,472 contacts via mass email and to 2343 contacts via EAACI social media channels and answered by 161 participants from 55 countries. Most respondents were pediatric allergists (74.5%). While 68.3% of the respondents stated that they use the EAACI/GA²LEN/EuroGuiDerm/APAAACI guideline, 10.6% declared that they do not use any guideline. Full blood count (83.3%), thyroid profile (64.6%), IgE (62.7%), thyroid antibodies (62.1%), C-reactive protein (59%), and antinuclear antibodies (ANA) or other antibodies (50.9%) were the most commonly used routine tests when diagnosing CU patients. Less than 20% of the respondents said they test their patients routinely for chronic induced urticaria when clinically suspected. Reasons for not testing at all were a lack of needed equipment or not knowing how to perform the test. In patients who do not respond to second-generation antihistamine standard dose, two to four-times increased dosage was the preferred step, independently of the child's age. Many participants do not prescribe omalizumab in children aged <5 years (77.6%), 6-11 years (45%), and adolescents (24.7%). In children who do not respond to omalizumab, almost half of the prescribing clinicians stated that they prefer oral ciclosporin-A, and 20% use oral corticosteroids.</p><p><strong>Conclusions: </strong>Some challenges to the effective use of evidence-based CU guidelines persist around basic testing in the diagnostic workup and pharmacological treatment in children. This study suggests the need for broader availability of specific testing tools and for further education and research in this field.</p>","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 8","pages":"e70174"},"PeriodicalIF":4.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144986838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Model-informed exploration of the boundaries of safe aluminium exposure from allergen immunotherapy in children.","authors":"Karin Weisser, Gaby Wangorsch, Niklas Hartung, Wilhelm Huisinga, Brigitte Keller-Stanislawski","doi":"10.1111/pai.70181","DOIUrl":"10.1111/pai.70181","url":null,"abstract":"<p><strong>Background: </strong>The safety of aluminium (Al) exposure from medicinal products for subcutaneous allergen immunotherapy (SCIT) is still under debate due to their administration in many doses over years. Especially for children, model-informed risk assessment is urgently needed in the absence of clinical study data.</p><p><strong>Methods: </strong>We applied a physiologically-based toxicokinetic Al model for simulation of Al exposure from various SCIT scenarios in children (5 and 10 years) compared to adults (35 years) in addition to continuous Al exposure from dietary intake.</p><p><strong>Results: </strong>Simulations of a worst-case Al exposure scenario (five-year SCIT; four-weekly injections; 1.25 mg Al per dose) in children reveal substantial, but subtoxic and transient increases in bone Al content. Predicted increases of Al levels in the brain appear negligible. In both of these storage organs, Al levels predicted at 50 years of age were only marginally affected by the previous SCIT treatment. Two exceptional SCIT scenarios, prolongation of treatment duration to 40 years and parallel treatment with two 1.25 mg Al-containing products, were associated with elevated bone Al levels above the normal adult range and close to a level where potential harm to bone metabolism cannot be excluded.</p><p><strong>Conclusions: </strong>Simulations support the tolerability of single SCIT treatments in all age groups ≥5 years, also with respect to the long-term Al body burden. The Pharmacopoeial limit of 1.25 mg Al per dose could be seen as a conservative threshold also for the sum of doses from parallel treatments. The decision to prolong therapy with Al-containing SCIT products should be taken under careful consideration of Al accumulation.</p>","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 8","pages":"e70181"},"PeriodicalIF":4.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12379567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144986911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FcεRI-bound OVM-sIgE detection: A promising predictor of boiled egg white OFC outcomes.","authors":"Rosa Rodríguez-Pérez, Elisa Pulido, Teresa Bellón, Mónica Rodríguez-Álvarez, Carmen Gómez-Traseira, Maria Ángeles López-Matas, Javier Dominguez-Ortega, Jerónimo Carnés, María Pedrosa","doi":"10.1111/pai.70149","DOIUrl":"https://doi.org/10.1111/pai.70149","url":null,"abstract":"","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 7","pages":"e70149"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age differences in health-related quality of life for children with hen's egg FPIES.","authors":"Naoki Kajita, Makoto Kaneko, Yuki Murata, Ryosuke Kagami, Kumiko Morita, Koichi Yoshida","doi":"10.1111/pai.70153","DOIUrl":"https://doi.org/10.1111/pai.70153","url":null,"abstract":"","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 7","pages":"e70153"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144677219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum albumin sensitization in children with cow's milk allergy: Clinical relevance to red meat reactions.","authors":"Cansu Özdemiral, Ilteber Konuralp, Bulent Enis Sekerel","doi":"10.1111/pai.70157","DOIUrl":"10.1111/pai.70157","url":null,"abstract":"<p><strong>Introduction: </strong>Sensitization to serum albumins (SAs) in cow's milk allergy (CMA) may contribute to red meat (RM) allergy. This study evaluated the prevalence of SA sensitization, patterns of cross-sensitization, and clinical relevance to RM allergy in children with CMA.</p><p><strong>Methods: </strong>Seventy children with CMA (58 current, 12 resolved) who underwent multiplex microarray testing were assessed for allergen sensitization profiles and reported reactions to RM.</p><p><strong>Results: </strong>Bos d 6 sensitization was identified in 61.4% of patients, and 18% had been advised to avoid RM. Among Bos d 6-sensitized patients, 39.5% were monosensitized. Co-sensitization rates were 46.5% for Sus s 1, 25.5% for Equ c 3, 23.2% for Fel d 2, and 16.2% for Can f 3. A strong correlation was observed between Bos d 6 and Sus s 1 (r = .79), with moderate correlations to Equ c 3 and Can f 3. Hierarchical clustering grouped Bos d 6 with Sus s 1, Equ c 3, and Can f 3. While milk allergen sensitization decreased in the resolved-CMA group, Bos d 6 persisted in some patients. Although all children tolerated well-cooked RM, 10% reported allergic reactions via various exposure routes, including one patient with resolved-CMA. All RM-reactive patients were sensitized to Bos d 6.</p><p><strong>Conclusions: </strong>Bos d 6 sensitization is common in children with CMA, yet clinical reactivity to RM is infrequent. Cultural and culinary practices may shape exposure and symptom expression, though avoidance behaviors remain common. Integrating allergen profiles into clinical care may guide risk stratification/avoidance recommendations.</p>","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 7","pages":"e70157"},"PeriodicalIF":4.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12290251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to Dr. Muhammad Zarrar.","authors":"Regina Nakiranda, Linda Malan, Hannah Ricci, Arista Nienaber, Cecile Cooke, Cristian Ricci, Mieke Faber, Cornelius M Smuts","doi":"10.1111/pai.70120","DOIUrl":"https://doi.org/10.1111/pai.70120","url":null,"abstract":"","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 7","pages":"e70120"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144546826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to Bakirtas et al.","authors":"Maria Ruano-Zaragoza, Sarah-Anne Hill, Ulugbek Nurmatov, Imke Reese, Mario C Vieira, Christophe Dupont, Carina Venter, Joanne Walsh, Glauce Yonamine, Alexia Beauregard, María-Fernanda González Matamala, Antonella Cianferoni, Audrey DunnGalvin, Marta Vazquez-Ortiz, Rosan Meyer","doi":"10.1111/pai.70155","DOIUrl":"https://doi.org/10.1111/pai.70155","url":null,"abstract":"","PeriodicalId":520742,"journal":{"name":"Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology","volume":"36 7","pages":"e70155"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144693126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}